Gene Variant Detail

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Gene MAP2K1
Variant I112_R113del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 I112_R113del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 112 to 113 (UniProt.org). I112_R113del results in increased Erk phosphorylation in cultured cells (PMID: 32641410), and therefore, is predicted to lead to a gain of Map2k1 protein function.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 I112_R113del

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Transcript NM_002755.4
gDNA chr15:g.66436788_66436793delATAAGG
cDNA c.334_339delATAAGG
Protein p.I112_R113delIR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022413.1 chr15:g.66485160_66485165delCAGGCC c.336_341delCAGGCC p.P114_R115delPR RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436788_66436793delATAAGG c.334_339delATAAGG p.I112_R113delIR RefSeq GRCh38/hg38
NM_002755 chr15:g.66436788_66436793delATAAGG c.334_339delATAAGG p.I112_R113delIR RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436788_66436793delATAAGG c.334_339delATAAGG p.I112_R113delIR RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436788_66436793delATAAGG c.334_339delATAAGG p.I112_R113delIR RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436854_66436859delTACAGC c.334_339delTACAGC p.Y112_S113delYS RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436854_66436859delTACAGC c.334_339delTACAGC p.Y112_S113delYS RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436854_66436859delTACAGC c.334_339delTACAGC p.Y112_S113delYS RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436854_66436859delTACAGC c.334_339delTACAGC p.Y112_S113delYS RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436854_66436859delTACAGC c.334_339delTACAGC p.Y112_S113delYS RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66436854_66436859delTACAGC c.334_339delTACAGC p.Y112_S113delYS RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485160_66485165delCAGGCC c.336_341delCAGGCC p.P114_R115delPR RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436788_66436793delATAAGG c.334_339delATAAGG p.I112_R113delIR RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436788_66436793delATAAGG c.334_339delATAAGG p.I112_R113delIR RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References